Phenotype News and Research

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Safety of breast implants

Following the recent scandal, described in May 2012 by the BBC as the “PIP breast implant scandal”, (1) many women may have been put off having breast implants. But how safe exactly is breast enlargement? And how do the different methods compare?

29 May 2012

Study shows how chromosomal mutation likely contributes to early development of prostate cancer

Up to half of all prostate cancer cells have a chromosomal rearrangement that results in a new "fusion" gene and formation of its unique protein -- but no one has known how that alteration promotes cancer growth. Now, Weill Cornell Medical College researchers have found that in these cancer cells, the 3-D architecture of DNA, wrapped up in a little ball known as a chromatin, is warped in such a way that a switch has been thrown on thousands of genes, turning them on or off to promote abnormal, unchecked growth. Researchers also found that new chromosomal translocations form, further destabilizing the genome.

23 May 2012

Failing combination asthma therapy may lead to SAFS in children

New research presented at the ATS 2012 International Conference in San Francisco suggests that a significant proportion of children with asthma failing Step 4 or greater therapy may have severe asthma with fungal sensitization (SAFS).

23 May 2012

Specific risk factors linked with exacerbation-prone phenotype of severe asthma

A number of specific risk factors are associated with an exacerbation-prone phenotype of severe asthma, according to a new study from researchers in Sweden.

21 May 2012

Study uncovers mechanism by which Notch pathway could contribute to RA

A new study led by researchers at Hospital for Special Surgery identifies the mechanism by which a cell signaling pathway contributes to the development of rheumatoid arthritis (RA). In addition, the study provides evidence that drugs under development for diseases such as cancer could potentially be used to treat RA.

21 May 2012

Human Gene Therapy highlights new advances in human retinal disease

Gene therapy strategies to prevent and treat inherited diseases of the retina that can cause blindness have progressed rapidly. Positive results in animal models of human retinal disease continue to emerge, as reported in several articles published in Human Gene Therapy, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers.

9 May 2012

Research reveals possible strategy to reverse fibrosis in liver and other organs

An international team of scientists, led by researchers at the University of California, San Diego School of Medicine, report that significant numbers of myofibroblasts - cells that produce the fibrous scarring in chronic liver injury - revert to an inactive phenotype as the liver heals. The discovery in mouse models could ultimately help lead to new human therapies for reversing fibrosis in the liver, and in other organs like the lungs and kidneys.

8 May 2012

Various combinations of biomarkers are required to unequivocally diagnose specific disease

With a range of diseases, doctors need unique features which they can use to unequivocally identify a patient's illness for an appropriate diagnosis. Scientists therefore search for the biomarkers for an illness or a combination of biomarkers, known as biosignatures, which are as easy as possible to measure.

7 May 2012

Scientists discover new type of dynamic change in human stem cells

A team led by scientists at The Scripps Research Institute and the University of California (UC) San Diego has discovered a new type of dynamic change in human stem cells.

4 May 2012

JCO publishes Syndax erlotinib-entinostat Phase 2 study for advanced non-small cell lung cancer

Syndax Pharmaceuticals, Inc., a late-stage oncology company focused on the clinical development of epigenetic therapies in solid tumors, announced that previously reported results from ENCORE 401, a randomized, placebo controlled Phase 2 study of erlotinib with or without entinostat in advanced non-small cell lung cancer patients were published in the Journal of Clinical Oncology (JCO).

30 Apr 2012

HDAC6 protein may provide novel target for stress-linked disorders

A cellular protein called HDAC6, newly characterized as a gatekeeper of steroid biology in the brain, may provide a novel target for treating and preventing stress-linked disorders, such as depression and post-traumatic stress disorder (PTSD), according to research from the Perelman School of Medicine at the University of Pennsylvania.

24 Apr 2012

Positive results from Alnylam’s ALN-PCS Phase I trial on severe hypercholesterolemia

Alnylam Pharmaceuticals, Inc., a leading RNAi therapeutics company, announced today positive results from its Phase I clinical trial of ALN-PCS, an RNAi therapeutic targeting PCSK9 for the treatment of severe hypercholesterolemia.

21 Apr 2012

Potential for gallbladder tissue as source for multipotential stem cells

A new study presented today at the International Liver Congress- 2012 indicates the potential for gallbladder tissue (which is routinely discarded from organ donors and surgical interventions) to be a highly available candidate source for multipotential stem cells.

20 Apr 2012

Differentiated luminal-like breast cancer cells can generate larger tumors

New findings in breast cancer research by an international team of scientists contradict the prevailing belief that only basal-like cells with stem cell qualities can form invasive tumors. Research led by Ole William Petersen at the University of Copenhagen (CU) and Mina Bissell of the Lawrence Berkeley National Laboratory (Berkeley Lab) and has shown that luminal-like cells with no detectable stem cell qualities can generate larger tumors than their basal-like counterparts.

19 Apr 2012

RiboMed releases multi-marker methylation prognostic test for glioma

RiboMed Clinical Services Laboratory (RCSL), a CLIA-certified subsidiary of RiboMed Biotechnologies, today announced the release of a multi-marker methylation prognostic test for grading gliomas, the most common type of brain cancer.

12 Apr 2012

SomaLogic, HUNT Biosciences partner to advance clinical use of cardiovascular biomarkers

HUNT Biosciences and SomaLogic, Inc., today announced a new collaboration to advance the clinical use of protein biomarkers, with an initial focus on the validation of biomarkers for the prediction of cardiovascular events such as strokes, heart attacks, and heart failure.

11 Apr 2012

Breast cancer cells that metastasize to the lung express higher level of PRDX2

Researchers from the Bellvitge Biomedical Research Institute (IDIBELL) have shown that breast cancer cells that metastasize to the lung express a higher level of the protein peroxiredoxin 2 (PRDX2). The study suggests that the modulation of the levels of this protein could be a new therapeutic strategy to prevent lung metastases.

11 Apr 2012

ACMG Foundation, Genzyme announce recipients of Medical Genetics Training Award

Carlos E. Prada, MD of Cincinnati Children's Hospital and James D. Weisfeld-Adams, MD of Mount Sinai School of Medicine, NY were honored as the 2012-2013 recipients of the Genzyme/ACMG Foundation Medical Genetics Training Award in Clinical Biochemical Genetics at the ACMG 2012 Annual Clinical Genetics Meeting in Charlotte, NC.

6 Apr 2012

AMP confident in lawsuit to invalidate patents on two breast cancer genes

Now that the Supreme Court has remanded Association for Molecular Pathology et al. v. Myriad Genetics, Inc., et al. (AMP v. Myriad) to the Court of Appeals for the Federal Circuit for further consideration, AMP is optimistic that it will ultimately prevail in its lawsuit to invalidate patents on two genes that are known to cause breast cancer.

28 Mar 2012

$Bronchoscopy helps distinguish phenotypes, personalize therapy for refractory asthma$

Bronchoscopy helps distinguish phenotypes, personalize therapy for refractory asthma

Using a bronchoscope to visually examine the airways and collect fluid and tissue can help guide effective therapy for difficult-to-treat asthma patients, according to researchers at National Jewish Health.

23 Mar 2012